A Rare Foot Duplication; Mirror Foot - Case Report. [PDF]
Sisli Etfal Hastan Tip BulAkpinar I, Cerikan MD, Dilek OF.
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Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome. [PDF]
Clin GenetShowpnil IA +9 more
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A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family. [PDF]
Genet Mol BiolFatima S +13 more
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Case Report: A case of Culler-Jones syndrome caused by <i>GLI2</i> gene mutation. [PDF]
Front PediatrXie X +6 more
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The molecular characterization of seven novel GLI family zinc finger 3 (<i>GLI3</i>) variants in Chinese families with limb malformations. [PDF]
Front GenetTao S, Gu X, Wang X, Shen X, Zhao X.
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Comparison and Classification of short rib polydactyly dysplasiy group
, 2003 Samir Jarrar
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A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene. [PDF]
BMC PediatrYuan X, Chu S, Gu W.
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Expanding the phenotype associated with biallelic SCNM1 variants. [PDF]
Hum GenomicsIturrate A +12 more
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The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]
Int J Womens HealthMei Y +8 more
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